摘要
目的:对ATP6V1H内含子区域的4个目标SNPs(rs2376011,rs4738884,rs10435587,rs41321146)等位基因进行深度分析,并探讨这些SNPs的生物学意义。方法:运用3DSNP数据库、LncSNP 2.0数据库、LNCipedia version 5.2、NCBI网站信息及RPIseq数据库等多种信息分析方法对4个SNPs的生物学信息及相关lncRNA的功能进行预测。结果:该4个SNPs位于8号染色体,其等位基因频率在亚洲人群约0.35,高于国际平均水平(约0.18)。染色质状态预测发现其中3个SNPs在不同组织或细胞的ATP6V1H中定位于增强子区域,可通过形成约800 kb的染色质环与NPBWR1进行三维交互作用。采用LncSNP2.0预测分析发现,rs4738884和rs10435587位于lncRNA编码基因NONHSAG050234和lnc-TCEA1-3之上,而lnc-TCEA1-3与ATP6V1H存在较强的相互作用,与自闭症和冠状动脉疾病的发生发展相关。结论:4个内含子区域SNPs通过增强子效应与lncRNA影响基因表达及相关功能。
Objective:To analyze the biological significance of 4 SNPs(rs2376011,rs4738884,rs10435587 and rs41321146)of human ATP6V1H.Methods:The biological information of the 4 SNPs and the functions of related lncRNAs were predicted by 3D SNP database,LncSNP 2.0 database,LNCipedia version 5.2,NCBI and RPIseq database.Results:The 4 SNPs were located on chromosome 8,with minor allele frequency(MAF)much higher(about 0.35)in Asian population than in the average(about 0.18)of world population.Chromatin state analysis showed that 3 SNPs principally located in the enhancer regions of ATP6V1H in various tissues or cells,and might conduct the 3D interaction with NPBWR1 by forming chromatin loops,with a span of about 800 kb.Furthermore,according to LncSNP2.0 database,rs4738884 and rs10435587 were located in NONHSAG050234 and lnc-TCEA1-3.lnc-TCEA1-3 is interactive with ATP6V1H,probably associated with various diseases such as autism and coronary artery disease.Conclusion:The 4 intron SNPs 4 SNPs(rs2376011,rs4738884,rs10435587 and rs41321146)of ATP6V1H may regulate gene expression and related functions by enhancer effect and the regulation of lncRNA.
作者
侯宇转
杨少青
阮文彦
张燕丽
张恒伟
黄永清
段小红
HOU Yuzhuan;YANG Shaoqing;RUAN Wenyan;ZHANG Yanli;ZHANG Hengwei;HUANG Yongqing;DUAN Xiaohong(School of Stomatology,Ningxia Medical University,Yinchuan 750004,China;State Key Laboratory of Military Stomatology&National Clinical Research Center for Oral Diseases&Shaanxi Key Laboratory of Stomatology,Department of Oral Biology,Clinic of Oral Rare Diseases and Genetic Diseases,The Third Affiliated Hospital of Air Force Medical University,Xi'an)
出处
《实用口腔医学杂志》
CAS
CSCD
北大核心
2022年第6期713-717,共5页
Journal of Practical Stomatology
基金
国家自然科学基金(编号:81771052,81960197,81974145)
国家自然科学基金青年项目(编号:81800787)
军事口腔医学国家重点实验室自主研究课题(编号:2018ZA01)
陕西省重点研发计划重点产业创新链(群)重点项目(编号:2021ZDLSF02-13)
宁夏医科大学总医院(自治区临床研究中心)开放课题(编号:2019209)。
